Down syndrome
Trisomy 21, the presence of a supernumerary chromosome 21, results in a collection of
clinical features commonly known as Down syndrome (DS). DS is among the most …
clinical features commonly known as Down syndrome (DS). DS is among the most …
Opportunities, barriers, and recommendations in Down syndrome research
JA Hendrix, A Amon, L Abbeduto… - … science of rare …, 2021 - journals.sagepub.com
BACKGROUND: Recent advances in medical care have increased life expectancy and
improved the quality of life for people with Down syndrome (DS). These advances are the …
improved the quality of life for people with Down syndrome (DS). These advances are the …
A non-mosaic transchromosomic mouse model of down syndrome carrying the long arm of human chromosome 21
Animal models of Down syndrome (DS), trisomic for human chromosome 21 (HSA21) genes
or orthologs, provide insights into better understanding and treatment options. The only …
or orthologs, provide insights into better understanding and treatment options. The only …
Improving public health requires inclusion of underrepresented populations in research
CY Spong, DW Bianchi - Jama, 2018 - jamanetwork.com
Advances in genomicshaveusheredinpromisingthera-pies tailored to the individual.
Personalized medicine is promoted and has begun to positively influence care. For …
Personalized medicine is promoted and has begun to positively influence care. For …
Neurodevelopment in Down syndrome: Concordance in humans and models
JA Klein, TF Haydar - Frontiers in cellular neuroscience, 2022 - frontiersin.org
Great strides have been made over the past 30 years in understanding the
neurodevelopmental changes underlying the intellectual disability (ID) in Down syndrome …
neurodevelopmental changes underlying the intellectual disability (ID) in Down syndrome …
Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: Feasibility, practice effects, test-retest reliability, and …
L Abbeduto, E Berry-Kravis, A Sterling… - Journal of …, 2020 - Springer
Background The evaluation of treatment efficacy for individuals with fragile X syndrome
(FXS) or intellectual disability (ID) more generally has been hampered by the lack of …
(FXS) or intellectual disability (ID) more generally has been hampered by the lack of …
A randomized, double-blind, placebo-controlled phase II trial to explore the effects of a GABAA-α5 NAM (basmisanil) on intellectual disability associated with Down …
C Goeldner, PS Kishnani, BG Skotko, JL Casero… - Journal of …, 2022 - Springer
Background There are currently no pharmacological therapies to address the intellectual
disability associated with Down syndrome. Excitatory/inhibitory imbalance has been …
disability associated with Down syndrome. Excitatory/inhibitory imbalance has been …
Aging with Down syndrome—where are we now and where are we going?
MJ Alldred, AC Martini, D Patterson, J Hendrix… - Journal of clinical …, 2021 - mdpi.com
Down syndrome (DS) is a form of accelerated aging, and people with DS are highly prone to
aging-related conditions that include vascular and neurological disorders. Due to the …
aging-related conditions that include vascular and neurological disorders. Due to the …
Prenatal and postnatal pharmacotherapy in Down syndrome: the search to prevent or ameliorate neurodevelopmental and neurodegenerative disorders
R Bartesaghi, S Vicari… - Annual review of …, 2022 - annualreviews.org
Those with Down syndrome (DS)—trisomy for chromosome 21—are routinely impacted by
cognitive dysfunction and behavioral challenges in children and adults and Alzheimer's …
cognitive dysfunction and behavioral challenges in children and adults and Alzheimer's …
Spoken language outcome measures for treatment studies in Down syndrome: Feasibility, practice effects, test-retest reliability, and construct validity of variables …
Background The purpose of this study was to evaluate expressive language sampling (ELS)
as a procedure for generating spoken language outcome measures for treatment research …
as a procedure for generating spoken language outcome measures for treatment research …